|
ENST00000418862.2:c.895A>T
|
ENSP00000391981.2:p.Ile299Phe
|
|
|
ENST00000508658.6:c.2767A>T
|
ENSP00000422814.2:p.Ile923Phe
|
|
|
ENST00000509338.6:c.1888A>T
|
ENSP00000424302.2:p.Ile630Phe
|
|
|
ENST00000514801.2:n.1984A>T
|
|
|
|
ENST00000515216.6:c.2746-12A>T
|
ENSP00000425630.2:n.2746-12A>T
|
|
|
ENST00000681965.1:c.3905A>T
|
ENSP00000507317.1:n.3905A>T
|
|
|
ENST00000681981.1:c.2683A>T
|
ENSP00000507672.1:p.Ile895Phe
|
|
|
ENST00000682022.1:c.*2659A>T
|
ENSP00000508118.1:n.*2659A>T
|
|
|
ENST00000682023.1:c.*2390A>T
|
ENSP00000507998.1:n.*2390A>T
|
|
|
ENST00000682034.1:c.*1934A>T
|
ENSP00000506724.1:n.*1934A>T
|
|
|
ENST00000682057.1:c.*2196A>T
|
ENSP00000507883.1:n.*2196A>T
|
|
|
ENST00000682083.1:c.*2677A>T
|
ENSP00000506859.1:n.*2677A>T
|
|
|
ENST00000682106.1:n.5281A>T
|
|
|
|
ENST00000682133.1:c.*330A>T
|
ENSP00000507001.1:n.*330A>T
|
|
|
ENST00000682171.1:c.2608A>T
|
ENSP00000508327.1:p.Ile870Phe
|
|
|
ENST00000682174.1:c.*2390A>T
|
ENSP00000507248.1:n.*2390A>T
|
|
|
ENST00000682374.1:c.*1313A>T
|
ENSP00000507425.1:n.*1313A>T
|
|
|
ENST00000682412.1:c.2607A>T
|
ENSP00000507297.1:n.2607A>T
|
|
|
ENST00000682454.1:c.*2130A>T
|
ENSP00000507851.1:n.*2130A>T
|
|
|
ENST00000682455.1:c.*3745A>T
|
ENSP00000507586.1:n.*3745A>T
|
|
|
ENST00000682464.1:c.*330A>T
|
ENSP00000507625.1:n.*330A>T
|
|
|
ENST00000682491.1:c.2479A>T
|
ENSP00000506970.1:p.Ile827Phe
|
|
|
ENST00000682497.1:c.2764A>T
|
ENSP00000507869.1:p.Ile922Phe
|
|
|
ENST00000682504.1:c.*2673A>T
|
ENSP00000507623.1:n.*2673A>T
|
|
|
ENST00000682514.1:n.8554A>T
|
|
|
|
ENST00000682594.1:n.3383A>T
|
|
|
|
ENST00000682633.1:c.*330A>T
|
ENSP00000507843.1:n.*330A>T
|
|
|
ENST00000682660.1:c.2506A>T
|
ENSP00000507539.1:p.Ile836Phe
|
|
|
ENST00000682682.1:c.2602A>T
|
ENSP00000507777.1:p.Ile868Phe
|
|
|
ENST00000682688.1:c.*1772A>T
|
ENSP00000507097.1:n.*1772A>T
|
|
|
ENST00000682694.1:c.*2130A>T
|
ENSP00000507387.1:n.*2130A>T
|
|
|
ENST00000682709.1:n.8686A>T
|
|
|
|
ENST00000682738.1:c.2575A>T
|
ENSP00000507742.1:p.Ile859Phe
|
|
|
ENST00000682776.1:c.*1518A>T
|
ENSP00000507490.1:n.*1518A>T
|
|
|
ENST00000682854.1:c.*2755A>T
|
ENSP00000507257.1:n.*2755A>T
|
|
|
ENST00000682878.1:c.*2455A>T
|
ENSP00000507360.1:n.*2455A>T
|
|
|
ENST00000682926.1:n.2174A>T
|
|
|
|
ENST00000682939.1:c.2479A>T
|
ENSP00000506902.1:p.Ile827Phe
|
|
|
ENST00000682991.1:c.2548A>T
|
ENSP00000508193.1:p.Ile850Phe
|
|
|
ENST00000682995.1:c.*1491A>T
|
ENSP00000506807.1:n.*1491A>T
|
|
|
ENST00000683073.1:c.*885A>T
|
ENSP00000507270.1:n.*885A>T
|
|
|
ENST00000683074.1:c.*2677A>T
|
ENSP00000507008.1:n.*2677A>T
|
|
|
ENST00000683085.1:c.*842A>T
|
ENSP00000507993.1:n.*842A>T
|
|
|
ENST00000683097.1:c.*1137A>T
|
ENSP00000507556.1:n.*1137A>T
|
|
|
ENST00000683126.1:c.*2287A>T
|
ENSP00000507507.1:n.*2287A>T
|
|
|
ENST00000683195.1:c.*2130A>T
|
ENSP00000508190.1:n.*2130A>T
|
|
|
ENST00000683196.1:c.*2130A>T
|
ENSP00000508297.1:n.*2130A>T
|
|
|
ENST00000683364.1:c.*2637A>T
|
ENSP00000507791.1:n.*2637A>T
|
|
|
ENST00000683436.1:c.*1798A>T
|
ENSP00000506874.1:n.*1798A>T
|
|
|
ENST00000683458.1:c.*1518A>T
|
ENSP00000508204.1:n.*1518A>T
|
|
|
ENST00000683473.1:n.3878A>T
|
|
|
|
ENST00000683479.1:c.2767A>T
|
ENSP00000507368.1:p.Ile923Phe
|
|
|
ENST00000683481.1:c.*1649A>T
|
ENSP00000507015.1:n.*1649A>T
|
|
|
ENST00000683541.1:c.2764A>T
|
ENSP00000507116.1:p.Ile922Phe
|
|
|
ENST00000683542.1:c.*2291A>T
|
ENSP00000506893.1:n.*2291A>T
|
|
|
ENST00000683577.1:c.*330A>T
|
ENSP00000507516.1:n.*330A>T
|
|
|
ENST00000683583.1:c.*5181A>T
|
ENSP00000507244.1:n.*5181A>T
|
|
|
ENST00000683643.1:c.2635A>T
|
ENSP00000507444.1:p.Ile879Phe
|
|
|
ENST00000683698.1:c.*2283A>T
|
ENSP00000507000.1:n.*2283A>T
|
|
|
ENST00000683726.1:c.*2287A>T
|
ENSP00000507744.1:n.*2287A>T
|
|
|
ENST00000683754.1:c.2686A>T
|
ENSP00000507707.1:p.Ile896Phe
|
|
|
ENST00000683763.1:n.1465A>T
|
|
|
|
ENST00000683785.1:c.2632A>T
|
ENSP00000507188.1:p.Ile878Phe
|
|
|
ENST00000683803.1:c.*1518A>T
|
ENSP00000508216.1:n.*1518A>T
|
|
|
ENST00000683857.1:c.*2196A>T
|
ENSP00000508015.1:n.*2196A>T
|
|
|
ENST00000683873.1:c.*2342A>T
|
ENSP00000506829.1:n.*2342A>T
|
|
|
ENST00000683878.1:c.*2048A>T
|
ENSP00000507449.1:n.*2048A>T
|
|
|
ENST00000683880.1:c.*2291A>T
|
ENSP00000508357.1:n.*2291A>T
|
|
|
ENST00000683898.1:c.2602A>T
|
ENSP00000506897.1:p.Ile868Phe
|
|
|
ENST00000683909.1:n.4797A>T
|
|
|
|
ENST00000684017.1:n.8279A>T
|
|
|
|
ENST00000684108.1:n.8686A>T
|
|
|
|
ENST00000684118.1:c.2743-12A>T
|
ENSP00000507950.1:n.2743-12A>T
|
|
|
ENST00000684150.1:c.2608A>T
|
ENSP00000507401.1:p.Ile870Phe
|
|
|
ENST00000684220.1:c.*2637A>T
|
ENSP00000507382.1:n.*2637A>T
|
|
|
ENST00000684239.1:c.*2392A>T
|
ENSP00000507479.1:n.*2392A>T
|
|
|
ENST00000684273.1:c.*2260A>T
|
ENSP00000508063.1:n.*2260A>T
|
|
|
ENST00000684281.1:c.2416A>T
|
ENSP00000507932.1:p.Ile806Phe
|
|
|
ENST00000684299.1:c.*330A>T
|
ENSP00000507637.1:n.*330A>T
|
|
|
ENST00000684319.1:c.*330A>T
|
ENSP00000508346.1:n.*330A>T
|
|
|
ENST00000684422.1:c.*2440A>T
|
ENSP00000507146.1:n.*2440A>T
|
|
|
ENST00000684451.1:c.*2072A>T
|
ENSP00000507384.1:n.*2072A>T
|
|
|
ENST00000684570.1:c.2830A>T
|
ENSP00000508127.1:p.Ile944Phe
|
|
|
ENST00000684581.1:c.*588A>T
|
ENSP00000507294.1:n.*588A>T
|
|
|
ENST00000684647.1:c.2476A>T
|
ENSP00000506873.1:p.Ile826Phe
|
|
|
ENST00000684680.1:c.2392A>T
|
ENSP00000507491.1:p.Ile798Phe
|
|
|
ENST00000684717.1:c.2884A>T
|
ENSP00000507024.1:p.Ile962Phe
|
|
|
ENST00000314673.8:c.2767A>T
MANE Select
|
ENSP00000313121.3:p.Ile923Phe
|
|
|
ENST00000314673.7:c.2767A>T
|
ENSP00000313121.3:p.Ile923Phe
|
|
|
ENST00000346348.7:c.2608A>T
|
ENSP00000257769.3:p.Ile870Phe
|
|
|
ENST00000369627.6:c.2740A>T
|
ENSP00000358641.2:p.Ile914Phe
|
|
|
ENST00000474645.6:n.512A>T
|
|
|
|
ENST00000503491.5:n.3256A>T
|
|
|
|
ENST00000505648.5:c.2611A>T
|
ENSP00000427380.1:p.Ile871Phe
|
|
|
ENST00000508658.5:c.483A>T
|
|
|
|
ENST00000508980.5:n.3373A>T
|
|
|
|
ENST00000513865.5:c.1924A>T
|
ENSP00000420938.1:p.Ile642Phe
|
|
|
NM_001297614.2:c.2740A>T
|
NP_001284543.1:p.Ile914Phe
|
|
|
NM_001304479.1:c.2611A>T
|
NP_001291408.1:p.Ile871Phe
|
|
|
NM_020468.5:c.2608A>T
|
NP_065201.1:p.Ile870Phe
|
|
|
NM_153816.5:c.2767A>T
|
NP_722523.1:p.Ile923Phe
|
|
|
XM_005248738.3:c.2764A>T
|
XP_005248795.1:p.Ile922Phe
|
|
|
XM_005248740.3:c.2635A>T
|
XP_005248797.1:p.Ile879Phe
|
|
|
XM_011535978.1:c.2548A>T
|
XP_011534280.1:p.Ile850Phe
|
|
|
XM_011535979.1:c.2479A>T
|
XP_011534281.1:p.Ile827Phe
|
|
|
XM_011535980.1:c.1612A>T
|
XP_011534282.1:p.Ile538Phe
|
|
|
XR_942523.1:n.2875A>T
|
|
|
|
NM_001350532.1:c.2830A>T
|
NP_001337461.1:p.Ile944Phe
|
|
|
NM_001350533.1:c.2764A>T
|
NP_001337462.1:p.Ile922Phe
|
|
|
NM_001350534.1:c.2737A>T
|
NP_001337463.1:p.Ile913Phe
|
|
|
NM_001350535.1:c.2743-12A>T
|
NP_001337464.1:n.2743-12A>T
|
|
|
NM_001350536.1:c.2635A>T
|
NP_001337465.1:p.Ile879Phe
|
|
|
NM_001350537.1:c.2632A>T
|
NP_001337466.1:p.Ile878Phe
|
|
|
NM_001350538.1:c.2623A>T
|
NP_001337467.1:p.Ile875Phe
|
|
|
NM_001350539.1:c.2608A>T
|
NP_001337468.1:p.Ile870Phe
|
|
|
NM_001350540.1:c.2602A>T
|
NP_001337469.1:p.Ile868Phe
|
|
|
NM_001350541.1:c.2575A>T
|
NP_001337470.1:p.Ile859Phe
|
|
|
NM_001350542.1:c.2479A>T
|
NP_001337471.1:p.Ile827Phe
|
|
|
NM_001350543.1:c.2476A>T
|
NP_001337472.1:p.Ile826Phe
|
|
|
NM_001350544.1:c.2467A>T
|
NP_001337473.1:p.Ile823Phe
|
|
|
NM_001350545.1:c.2323A>T
|
NP_001337474.1:p.Ile775Phe
|
|
|
NM_001350546.1:c.2323A>T
|
NP_001337475.1:p.Ile775Phe
|
|
|
NM_001350547.1:c.1717A>T
|
NP_001337476.1:p.Ile573Phe
|
|
|
NM_001350548.1:c.1612A>T
|
NP_001337477.1:p.Ile538Phe
|
|
|
NM_001350549.1:c.1612A>T
|
NP_001337478.1:p.Ile538Phe
|
|
|
NM_001350550.1:c.1612A>T
|
NP_001337479.1:p.Ile538Phe
|
|
|
NM_001350551.1:c.1612A>T
|
NP_001337480.1:p.Ile538Phe
|
|
|
NM_001350552.1:c.1612A>T
|
NP_001337481.1:p.Ile538Phe
|
|
|
NM_001350553.1:c.1585A>T
|
NP_001337482.1:p.Ile529Phe
|
|
|
NR_146774.1:n.3201A>T
|
|
|
|
NR_146775.1:n.3204A>T
|
|
|
|
NR_146776.1:n.3327A>T
|
|
|
|
NR_146777.1:n.3455A>T
|
|
|
|
NR_146778.1:n.3459A>T
|
|
|
|
NR_146779.1:n.3456A>T
|
|
|
|
XM_017011090.1:c.2608A>T
|
XP_016866579.1:p.Ile870Phe
|
|
|
XM_024446498.1:c.2476A>T
|
XP_024302266.1:p.Ile826Phe
|
|
|
XM_024446499.1:c.1612A>T
|
XP_024302267.1:p.Ile538Phe
|
|
|
NM_153816.6:c.2767A>T
MANE Select
|
NP_722523.1:p.Ile923Phe
|
|
|
NM_001297614.3:c.2740A>T
|
NP_001284543.1:p.Ile914Phe
|
|
|
NM_001304479.2:c.2611A>T
|
NP_001291408.1:p.Ile871Phe
|
|
|
NM_001350532.2:c.2830A>T
|
NP_001337461.1:p.Ile944Phe
|
|
|
NM_001350533.2:c.2764A>T
|
NP_001337462.1:p.Ile922Phe
|
|
|
NM_001350534.2:c.2737A>T
|
NP_001337463.1:p.Ile913Phe
|
|
|
NM_001350535.2:c.2743-12A>T
|
NP_001337464.1:n.2743-12A>T
|
|
|
NM_001350536.2:c.2635A>T
|
NP_001337465.1:p.Ile879Phe
|
|
|
NM_001350537.2:c.2632A>T
|
NP_001337466.1:p.Ile878Phe
|
|
|
NM_001350538.2:c.2623A>T
|
NP_001337467.1:p.Ile875Phe
|
|
|
NM_001350539.2:c.2608A>T
|
NP_001337468.1:p.Ile870Phe
|
|
|
NM_001350540.2:c.2602A>T
|
NP_001337469.1:p.Ile868Phe
|
|
|
NM_001350541.2:c.2575A>T
|
NP_001337470.1:p.Ile859Phe
|
|
|
NM_001350542.2:c.2479A>T
|
NP_001337471.1:p.Ile827Phe
|
|
|
NM_001350543.2:c.2476A>T
|
NP_001337472.1:p.Ile826Phe
|
|
|
NM_001350544.2:c.2467A>T
|
NP_001337473.1:p.Ile823Phe
|
|
|
NM_001350545.2:c.2323A>T
|
NP_001337474.1:p.Ile775Phe
|
|
|
NM_001350546.2:c.2323A>T
|
NP_001337475.1:p.Ile775Phe
|
|
|
NM_001350547.2:c.1717A>T
|
NP_001337476.1:p.Ile573Phe
|
|
|
NM_001350548.2:c.1612A>T
|
NP_001337477.1:p.Ile538Phe
|
|
|
NM_001350549.2:c.1612A>T
|
NP_001337478.1:p.Ile538Phe
|
|
|
NM_001350550.2:c.1612A>T
|
NP_001337479.1:p.Ile538Phe
|
|
|
NM_001350551.2:c.1612A>T
|
NP_001337480.1:p.Ile538Phe
|
|
|
NM_001350552.2:c.1612A>T
|
NP_001337481.1:p.Ile538Phe
|
|
|
NM_001350553.2:c.1585A>T
|
NP_001337482.1:p.Ile529Phe
|
|
|
NM_020468.6:c.2608A>T
|
NP_065201.1:p.Ile870Phe
|
|
|
NR_146774.2:n.2903A>T
|
|
|
|
NR_146775.2:n.2906A>T
|
|
|
|
NR_146776.2:n.3029A>T
|
|
|
|
NR_146777.2:n.3157A>T
|
|
|
|
NR_146778.2:n.3161A>T
|
|
|
|
NR_146779.2:n.3158A>T
|
|
|
